Jacek Majewski Selected Research

Cole Carpenter syndrome

3/2015

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.

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Jacek Majewski Research Topics

Disease

24	Neoplasms (Cancer) 01/2022 - 08/2010
13	Atrial Fibrillation 10/2015 - 04/2004
6	Carcinogenesis 01/2021 - 04/2016
6	Microcephaly 01/2019 - 02/2012
6	Intellectual Disability (Idiocy) 01/2019 - 01/2012
6	Seizures (Absence Seizure) 01/2017 - 11/2012
6	Cardiac Arrhythmias (Arrythmia) 01/2012 - 09/2004
5	Glioma (Gliomas) 01/2019 - 09/2012
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2017 - 08/2007
5	Glioblastoma (Glioblastoma Multiforme) 02/2014 - 01/2012
5	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2013 - 01/2007
4	Breast Neoplasms (Breast Cancer) 01/2022 - 08/2010
4	Infections 01/2020 - 02/2015
4	Tachycardia (Tachyarrhythmias) 01/2015 - 04/2004
4	Brain Neoplasms (Brain Tumor) 11/2014 - 09/2012
4	Ventricular Tachycardia 06/2012 - 01/2012
4	Atrioventricular Nodal Reentry Tachycardia (AV Nodal Reentrant Tachycardia) 06/2012 - 01/2002
3	Triple Negative Breast Neoplasms 01/2022 - 12/2019
3	Sarcoma (Soft Tissue Sarcoma) 01/2021 - 05/2016
3	Neoplasm Metastasis (Metastasis) 01/2020 - 08/2010
3	Cerebral Malaria 01/2020 - 02/2015
3	Neuroinflammatory Diseases 01/2020 - 11/2016
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2019 - 02/2015
3	Muscle Hypotonia (Hypotonia) 01/2017 - 11/2012
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2017 - 10/2013
3	Heart Failure 01/2011 - 04/2005
3	Atrial Flutter (Flutter, Atrial) 09/2009 - 09/2004
2	Ovarian Neoplasms (Ovarian Cancer) 12/2021 - 01/2017
2	Epilepsy (Aura) 01/2019 - 01/2019
2	Salmonella Infections (Salmonellosis) 01/2019 - 01/2014
2	Atrophy 01/2019 - 12/2015
2	Leigh Disease (Leigh's Disease) 01/2016 - 11/2014
2	Lactic Acidosis 01/2016 - 01/2016
2	Thromboembolism 10/2015 - 04/2015
2	Deafness (Deaf Mutism) 11/2014 - 11/2014
2	Megalencephaly 05/2014 - 06/2012
2	Cardiomyopathies (Cardiomyopathy) 03/2014 - 01/2012
2	Systemic Lupus Erythematosus (Libman-Sacks Disease) 08/2013 - 05/2011
2	Persistent Left Superior Vena Cava 01/2013 - 01/2005
2	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 02/2012 - 02/2012
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2012 - 01/2012
2	Cardiovascular Diseases (Cardiovascular Disease) 01/2012 - 01/2012
2	Atrioventricular Block 01/2007 - 01/2005
1	Habitual Abortion (Recurrent Miscarriage) 01/2022

Drug/Important Bio-Agent (IBA)

21	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2006
12	Histones (Histone)IBA 01/2021 - 01/2012
8	DNA (Deoxyribonucleic Acid)IBA 12/2021 - 01/2013
6	ChromatinIBA 01/2021 - 01/2012
5	Pharmaceutical PreparationsIBA 12/2019 - 04/2005
4	Nonsense Codon (Nonsense Mutation)IBA 01/2019 - 11/2006
4	Biological ProductsIBA 12/2017 - 10/2012
4	RNA (Ribonucleic Acid)IBA 01/2017 - 10/2011
4	EnzymesIBA 01/2017 - 11/2006
4	Amiodarone (Amiodarona)FDA LinkGeneric 01/2015 - 01/2011
3	Lysine (L-Lysine)FDA Link 01/2021 - 05/2016
3	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2020 - 01/2014
3	Mitogen-Activated Protein KinasesIBA 01/2017 - 08/2013
3	Methylmalonic AcidIBA 01/2016 - 09/2011
3	FibrinIBA 10/2015 - 11/2011
3	Dichlorodiphenyldichloroethane (DDD)IBA 01/2015 - 01/2005
3	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 01/2012 - 05/2005
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2020 - 01/2017
2	ParaffinIBA 07/2019 - 06/2017
2	Formaldehyde (Formol)FDA Link 07/2019 - 06/2017
2	CollagenIBA 01/2018 - 02/2005
2	Interferon Type IIBA 01/2017 - 11/2016
2	Phosphotransferases (Kinase)IBA 01/2017 - 01/2016
2	Centrosomal Associated ProteinsIBA 01/2017 - 01/2014
2	AntigensIBA 12/2016 - 11/2011
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2016 - 10/2013
2	HomocysteineIBA 01/2016 - 09/2011
2	LipidsIBA 01/2016 - 12/2015
2	AcidsIBA 01/2016 - 07/2013
2	Thrombin FDA Link 10/2015 - 04/2015
2	Vitamin K FDA Link 10/2015 - 04/2015
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 07/2015 - 11/2014
2	Fibrinogen (Factor I)FDA Link 04/2015 - 01/2012
2	Alanine (L-Alanine)FDA Link 03/2014 - 07/2013
2	Protein Isoforms (Isoforms)IBA 01/2014 - 08/2010
2	Interleukin-6 (Interleukin 6)IBA 09/2013 - 01/2012
2	Interferon Regulatory FactorsIBA 08/2013 - 05/2011
2	Oxidoreductases (Dehydrogenase)IBA 07/2013 - 11/2012
2	RNA Precursors (Precursor, mRNA)IBA 05/2012 - 08/2007
2	Sodium Potassium Chloride Symporter Inhibitors (Loop Diuretics)IBA 01/2012 - 01/2012
2	Plasminogen Activator Inhibitor 1IBA 01/2012 - 11/2011
2	Sotalol (Sotalol Hydrochloride)FDA LinkGeneric 01/2012 - 01/2012
2	Mineralocorticoid Receptor AntagonistsIBA 01/2012 - 01/2012
2	Angiotensin Receptor AntagonistsIBA 01/2012 - 01/2012
2	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2012 - 01/2012
1	RibonucleoproteinsIBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022

Therapy/Procedure

18	Therapeutics 01/2020 - 07/2005
8	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 01/2013 - 07/2005
6	Radiofrequency Ablation 01/2013 - 01/2002
6	Catheter Ablation 09/2009 - 09/2004
3	Defibrillators (Defibrillator) 01/2011 - 01/2007
2	Drug Therapy (Chemotherapy) 12/2019 - 03/2013
2	Secondary Prevention 06/2012 - 01/2012
2	Maze Procedure 01/2011 - 09/2009
1	Investigational Therapies (Experimental Therapy) 01/2022